Incidental Mutation 'R2850:Clk1'
ID |
252034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clk1
|
Ensembl Gene |
ENSMUSG00000026034 |
Gene Name |
CDC-like kinase 1 |
Synonyms |
Clk1, STY |
MMRRC Submission |
040443-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2850 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58451147-58463247 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58451438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 457
(L457S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034868]
[ENSMUST00000050552]
[ENSMUST00000151338]
[ENSMUST00000148330]
|
AlphaFold |
P22518 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034868
AA Change: L457S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034868 Gene: ENSMUSG00000026034 AA Change: L457S
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
low complexity region
|
99 |
139 |
N/A |
INTRINSIC |
S_TKc
|
160 |
476 |
3.55e-79 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050552
|
SMART Domains |
Protein: ENSMUSP00000051935 Gene: ENSMUSG00000051223
Domain | Start | End | E-Value | Type |
eIF5C
|
325 |
410 |
3.75e-37 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123580
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129303
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129577
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131051
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135380
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139787
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141570
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186552
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156931
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151338
|
SMART Domains |
Protein: ENSMUSP00000137815 Gene: ENSMUSG00000026034
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
low complexity region
|
99 |
129 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148330
|
SMART Domains |
Protein: ENSMUSP00000137649 Gene: ENSMUSG00000026034
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
low complexity region
|
99 |
129 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9327 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (57/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
A |
13: 12,290,065 (GRCm39) |
T734S |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,336,868 (GRCm39) |
|
probably benign |
Het |
Ahi1 |
C |
T |
10: 20,876,492 (GRCm39) |
T801I |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,598,281 (GRCm39) |
S1505P |
probably benign |
Het |
Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
Anxa6 |
T |
A |
11: 54,901,852 (GRCm39) |
Y95F |
possibly damaging |
Het |
Cacna1b |
C |
T |
2: 24,651,800 (GRCm39) |
M126I |
probably damaging |
Het |
Cngb3 |
T |
C |
4: 19,415,690 (GRCm39) |
I400T |
possibly damaging |
Het |
Cntnap5c |
T |
A |
17: 58,717,343 (GRCm39) |
|
probably benign |
Het |
Corin |
A |
G |
5: 72,462,298 (GRCm39) |
V837A |
probably damaging |
Het |
Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
Cubn |
G |
A |
2: 13,327,764 (GRCm39) |
T2687I |
probably damaging |
Het |
Cypt3 |
T |
A |
X: 152,342,274 (GRCm39) |
N168K |
probably damaging |
Het |
E330020D12Rik |
A |
G |
1: 153,282,336 (GRCm39) |
|
noncoding transcript |
Het |
Fbxl4 |
T |
C |
4: 22,403,624 (GRCm39) |
M399T |
probably benign |
Het |
Fbxo22 |
T |
C |
9: 55,130,699 (GRCm39) |
F323L |
probably damaging |
Het |
Fnip1 |
A |
T |
11: 54,393,503 (GRCm39) |
E646D |
probably benign |
Het |
Gid4 |
G |
A |
11: 60,329,400 (GRCm39) |
|
probably null |
Het |
Gnb5 |
A |
T |
9: 75,234,511 (GRCm39) |
D70V |
probably damaging |
Het |
Gpank1 |
A |
G |
17: 35,343,557 (GRCm39) |
S346G |
probably benign |
Het |
Gtf3c6 |
T |
C |
10: 40,130,254 (GRCm39) |
|
probably benign |
Het |
Hdx |
T |
C |
X: 110,502,720 (GRCm39) |
I562V |
probably benign |
Het |
Ifrd2 |
T |
C |
9: 107,468,908 (GRCm39) |
|
probably benign |
Het |
Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
Kif11 |
C |
A |
19: 37,397,941 (GRCm39) |
D630E |
probably benign |
Het |
Lpl |
G |
T |
8: 69,352,164 (GRCm39) |
E372* |
probably null |
Het |
Mrps26 |
T |
C |
2: 130,406,967 (GRCm39) |
V198A |
probably benign |
Het |
Mucl1 |
T |
C |
15: 103,782,348 (GRCm39) |
N201S |
possibly damaging |
Het |
Nedd4 |
C |
T |
9: 72,632,356 (GRCm39) |
L397F |
possibly damaging |
Het |
Nfat5 |
A |
G |
8: 108,020,492 (GRCm39) |
D12G |
probably damaging |
Het |
Or5b102 |
T |
C |
19: 13,040,934 (GRCm39) |
L53P |
probably damaging |
Het |
Pik3r3 |
A |
G |
4: 116,127,981 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,350,622 (GRCm39) |
V489E |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,579,300 (GRCm39) |
E1802G |
possibly damaging |
Het |
Plb1 |
T |
A |
5: 32,450,568 (GRCm39) |
S370T |
probably benign |
Het |
Ppat |
G |
A |
5: 77,067,222 (GRCm39) |
T337I |
probably benign |
Het |
Prkd3 |
A |
G |
17: 79,262,025 (GRCm39) |
V763A |
possibly damaging |
Het |
Prr9 |
A |
T |
3: 92,030,476 (GRCm39) |
S55T |
probably benign |
Het |
Rbpms |
G |
T |
8: 34,324,405 (GRCm39) |
N108K |
possibly damaging |
Het |
Rc3h2 |
A |
T |
2: 37,267,427 (GRCm39) |
D972E |
probably benign |
Het |
Rrbp1 |
C |
T |
2: 143,791,269 (GRCm39) |
R1378Q |
probably benign |
Het |
Slc26a7 |
T |
A |
4: 14,593,806 (GRCm39) |
|
probably benign |
Het |
Stard6 |
T |
A |
18: 70,616,522 (GRCm39) |
H60Q |
probably benign |
Het |
Sult6b2 |
T |
C |
6: 142,743,613 (GRCm39) |
T138A |
probably benign |
Het |
Th |
G |
A |
7: 142,447,812 (GRCm39) |
Q329* |
probably null |
Het |
Tmco3 |
A |
G |
8: 13,345,024 (GRCm39) |
H268R |
probably benign |
Het |
Tnn |
T |
C |
1: 159,966,857 (GRCm39) |
D429G |
probably benign |
Het |
Tnrc6a |
G |
A |
7: 122,779,023 (GRCm39) |
G1245R |
probably damaging |
Het |
Trem3 |
C |
A |
17: 48,556,669 (GRCm39) |
L47M |
probably benign |
Het |
Trpm6 |
T |
A |
19: 18,769,454 (GRCm39) |
C307S |
possibly damaging |
Het |
Ube2j1 |
T |
A |
4: 33,049,696 (GRCm39) |
N231K |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,571,144 (GRCm39) |
Y1222H |
probably benign |
Het |
Wdr81 |
A |
T |
11: 75,341,998 (GRCm39) |
S1090T |
probably damaging |
Het |
Ythdf3 |
T |
C |
3: 16,257,982 (GRCm39) |
|
probably benign |
Het |
Zfp280d |
A |
G |
9: 72,219,371 (GRCm39) |
T183A |
probably benign |
Het |
Zfp354c |
G |
A |
11: 50,706,158 (GRCm39) |
Q306* |
probably null |
Het |
Zp2 |
T |
C |
7: 119,737,529 (GRCm39) |
H252R |
probably benign |
Het |
|
Other mutations in Clk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01152:Clk1
|
APN |
1 |
58,452,611 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01516:Clk1
|
APN |
1 |
58,453,563 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01684:Clk1
|
APN |
1 |
58,456,424 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02621:Clk1
|
APN |
1 |
58,453,614 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Clk1
|
APN |
1 |
58,453,635 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03028:Clk1
|
APN |
1 |
58,460,261 (GRCm39) |
nonsense |
probably null |
|
IGL03117:Clk1
|
APN |
1 |
58,456,166 (GRCm39) |
splice site |
probably null |
|
PIT4243001:Clk1
|
UTSW |
1 |
58,458,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R0149:Clk1
|
UTSW |
1 |
58,453,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R0309:Clk1
|
UTSW |
1 |
58,452,192 (GRCm39) |
splice site |
probably benign |
|
R0730:Clk1
|
UTSW |
1 |
58,453,558 (GRCm39) |
missense |
probably benign |
0.38 |
R1570:Clk1
|
UTSW |
1 |
58,453,584 (GRCm39) |
missense |
probably benign |
0.28 |
R1729:Clk1
|
UTSW |
1 |
58,460,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R1905:Clk1
|
UTSW |
1 |
58,461,101 (GRCm39) |
splice site |
probably benign |
|
R2382:Clk1
|
UTSW |
1 |
58,460,448 (GRCm39) |
missense |
probably benign |
0.01 |
R4658:Clk1
|
UTSW |
1 |
58,452,146 (GRCm39) |
missense |
probably benign |
0.01 |
R4846:Clk1
|
UTSW |
1 |
58,460,261 (GRCm39) |
missense |
probably benign |
0.33 |
R5011:Clk1
|
UTSW |
1 |
58,453,642 (GRCm39) |
missense |
probably benign |
|
R5196:Clk1
|
UTSW |
1 |
58,453,772 (GRCm39) |
missense |
probably benign |
0.00 |
R5699:Clk1
|
UTSW |
1 |
58,459,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R5838:Clk1
|
UTSW |
1 |
58,451,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R5839:Clk1
|
UTSW |
1 |
58,461,074 (GRCm39) |
missense |
probably benign |
0.09 |
R6697:Clk1
|
UTSW |
1 |
58,453,781 (GRCm39) |
missense |
probably benign |
0.21 |
R7293:Clk1
|
UTSW |
1 |
58,453,772 (GRCm39) |
missense |
probably benign |
0.00 |
R7332:Clk1
|
UTSW |
1 |
58,451,853 (GRCm39) |
missense |
probably benign |
0.16 |
R7663:Clk1
|
UTSW |
1 |
58,460,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8550:Clk1
|
UTSW |
1 |
58,451,835 (GRCm39) |
missense |
probably damaging |
0.99 |
R9090:Clk1
|
UTSW |
1 |
58,459,312 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9268:Clk1
|
UTSW |
1 |
58,458,882 (GRCm39) |
missense |
unknown |
|
R9271:Clk1
|
UTSW |
1 |
58,459,312 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1176:Clk1
|
UTSW |
1 |
58,456,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TACTGTAGAAAGACCGTACACCAAG -3'
(R):5'- TCCAAAAGAGAGGCCTGGTAAC -3'
Sequencing Primer
(F):5'- GGTTTGGCCATGTATTTAATAAAGC -3'
(R):5'- CCTGGCATCCCATGATTGTAAATGG -3'
|
Posted On |
2014-12-04 |